Literature DB >> 4426326

Family with Charcot-Marie-Tooth disease showing unusual biochemical-clinical and genetic features.

C J de Weerdt, W Heerspink.   

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Year:  1974        PMID： 4426326     DOI： 10.1159/000114624

Source DB:  PubMed          Journal:  Eur Neurol        ISSN： 0014-3022            Impact factor:   1.710


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  2 in total

1.  Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.

Authors:  D Kabzińska; E Sinkiewicz-Darol; I Hausmanowa-Petrusewicz; A Kochański
Journal:  J Appl Genet       Date:  2010       Impact factor: 3.240

2.  A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Authors:  M J Kovach; J P Lin; S Boyadjiev; K Campbell; L Mazzeo; K Herman; L A Rimer; W Frank; B Llewellyn; E W Jabs; D Gelber; V E Kimonis
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025
  2 in total

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